Gene cards

GeneCards, the human gene compendium, enables researchers to effectively navigate and inter-relate gene cards wide universe of human genes, diseases, variants, proteins, cells, and biological pathways.

Download chapter PDF. Its popularity encouraged the expansion of the knowledgebase to provide the same functionality for diseases and pathways. Together with this growth came the realization that the depth and breadth of the data itself, while extremely useful in its own right, could be leveraged to solve problems. Today, there is increasing recognition by the scientific community that NGS is a pivotal technology for diagnosing the genetic cause of many human diseases; several large-scale projects implement NGS as a key instrument for elucidating the genetic components of rare diseases and cancer Bamshad et al. Other clinical studies aimed at deciphering monogenic and complex diseases have also demonstrated the effectiveness of NGS approaches including whole genome, whole exome, and gene panel sequencing van den Veyver and Eng ; Yang et al. Subsequently, analysis pipelines sift these SNPs and indels by populating the VCF file with annotation data, such as segregation in affected families, genetic linkage information Smith et al.

Gene cards

GeneCards www. We now introduce GeneCards Version 3, featuring a speedy and sophisticated search engine and a revamped, technologically enabling infrastructure, catering to the expanding needs of biomedical researchers. A key focus is on gene-set analyses, which leverage GeneCards' unique wealth of combinatorial annotations. These include the GeneALaCart batch query facility, which tabulates user-selected annotations for multiple genes and GeneDecks, which identifies similar genes with shared annotations, and finds set-shared annotations by descriptor enrichment analysis. Such set-centric features address a host of applications, including microarray data analysis, cross-database annotation mapping and gene-disorder associations for drug targeting. We highlight the new Version 3 database architecture, its multi-faceted search engine, and its semi-automated quality assurance system. Data enhancements include an expanded visualization of gene expression patterns in normal and cancer tissues, an integrated alternative splicing pattern display, and augmented multi-source SNPs and pathways sections. GeneCards now provides direct links to gene-related research reagents such as antibodies, recombinant proteins, DNA clones and inhibitory RNAs and features gene-related drugs and compounds lists. We also portray the GeneCards Inferred Functionality Score annotation landscape tool for scoring a gene's functional information status. Finally, we delineate examples of applications and collaborations that have benefited from the GeneCards suite. Database URL: www. Abstract GeneCards www. Publication types Research Support, Non-U.

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GeneCards is a database of human genes that provides genomic , proteomic , transcriptomic , genetic and functional information on all known and predicted human genes. The database aims at providing a comprehensive view of the current available biomedical information about the searched gene, including its aliases and identifiers, the encoded proteins , associated diseases and variations, its function, relevant publications and more. Since , the GeneCards database has been widely used by bioinformatics , genomics and medical communities for more than 24 years. Since the s, sequence information has become increasingly abundant; subsequently many laboratories realized this and began to store such information in central repositories-the primary database. Since , the database has integrated more data resources and data types, such as protein expression and gene network information. It has also improved the speed and sophistication of the search engine, and expanded from a gene-centric dogma to contain gene-set analyses. Version 3 of the database gathers information from more than 90 database resources based on a consolidated gene list.

GeneAnalytics is a powerful and user friendly gene set analysis tool that can rapidly contextualize experimental gene expression, and function, signatures derived from next generation sequencing of DNA and RNA and from microarray analyses. It leverages LifeMap's extensive integrated biomedical knowledgebase including, GeneCards , MalaCards and LifeMap Discovery , which utilize data from more than sources. Accessing this extensive biomedical knowledgebase enables GeneAnalytics to effectively identify tissues and cell types, and various diseases, that match experimental gene sets, based on shared gene expression patterns. GeneAnalytics can also identify diseases, biological pathways and compounds that are associated with experimental gene sets based on shared gene functionality. GeneAnalytics presents the analysis results attractively and interactively, with links to supporting data and further information. GeneAnalytics enables researchers to identify tissues and cell types related to their gene sets of interest. This results section is only leverages data for normal tissues and cells.

Gene cards

Federal government websites often end in. The site is secure. GeneCards www. We now introduce GeneCards Version 3, featuring a speedy and sophisticated search engine and a revamped, technologically enabling infrastructure, catering to the expanding needs of biomedical researchers.

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Initially, at least 10 affiliated genes are shown all of the elite genes are always shown , with an option to see the complete list. Skip to main content. BMC Genomics Sci Rep In many cases, none of the annotated variant-disease relations appears relevant to the sequenced subject. If material is not included in the chapter's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. Human Genomics. It is centrally located on the homepage, as well as at the top right corner of every page comprising the Web site. TGex requires two inputs: Rebhan et al. We illustrate exploring and browsing of the various suite sites by describing the MalaCards Rappaport et al. Horm Res Paediatr 89 1 — The list of entered SVs Fig.

GeneCards is a database of human genes that provides genomic , proteomic , transcriptomic , genetic and functional information on all known and predicted human genes.

Hidden categories: Articles with short description Short description matches Wikidata Articles to be expanded from February All articles to be expanded Articles using small message boxes All articles with unsourced statements Articles with unsourced statements from February Wikipedia articles with style issues from April All articles with style issues Official website different in Wikidata and Wikipedia. Finally, we delineate examples of applications and collaborations that have benefited from the GeneCards suite. J Infect Dis 9 — Full size image. It has also added a suite of GeneCards tools which focus on more specific purposes. Together with this growth came the realization that the depth and breadth of the data itself, while extremely useful in its own right, could be leveraged to solve problems. While interpretation of genetic disease NGS analyses was the focus of our described use cases, VarElect is also a potent tool for supporting the interpretation of other experimental results. Genome Biol 12 9 :R J Virol 92 18 :e The list of entered SVs Fig. Reprints and permissions. Oncol Rep 35 6 — About this chapter. Stranneheim H, Wedell A Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders.